Porphyria due to ALA dehydratase deficiency

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 7490911
 delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman.
Muraoka A, Suehiro I, Fujii M, Murakami K.
Kobe J Med Sci. 1995;41(1-2):23-31.
Edema
ALAD
Abdominal Pain Comatose Females Homo sapiens Inappropriate ADH Syndrome Japan Osmolarity Paresis Porphyrins Vasopressins Vomiting
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0000709 Psychosis Very frequent (99-80%)
HP:0001271 Polyneuropathy Very frequent (99-80%)
HP:0002014 Diarrhea Very frequent (99-80%)
HP:0002019 Constipation Very frequent (99-80%)
HP:0002027 Abdominal pain Very frequent (99-80%)
HP:0000763 Sensory neuropathy Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001269 Hemiparesis Occasional (29-5%)
HP:0002093 Respiratory insufficiency Occasional (29-5%)
HP:0007002 Motor axonal neuropathy Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ALAD aminolevulinate dehydratase 210